Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FANCD2	2177	broad.mit.edu	37	3	10083383	10083383	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr3:10083383T>G	uc003buw.3	+	9	850	c.772T>G	c.(772-774)Ttc>Gtc	p.F258V	FANCD2_uc003bux.1_Missense_Mutation_p.F258V|FANCD2_uc003buy.1_Missense_Mutation_p.F258V	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	258	Interaction with BRCA2.|Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGACCCAAACTTCCTATTGAA	0.438000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	25					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233243710	233243710	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr2:233243710C>T	uc002vsq.3	+	1	271	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	36						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CTTCTGGAACCGCGAGGCAGC	0.632000													9	97					0	0	1	0	0
COMMD3-BMI1	100532731	broad.mit.edu	37	10	22618234	22618234	+	Silent	SNP	A	A	G			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr10:22618234A>G	uc009xkg.3	+	13	1208	c.1173A>G	c.(1171-1173)gaA>gaG	p.E391E	COMMD3-BMI1_uc001irh.3_Silent_p.E248E	NM_001204062	NP_001190991	P35226	BMI1_HUMAN	Homo sapiens COMMD3-BMI1 readthrough (COMMD3-BMI1), mRNA.	248					hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	PcG protein complex|cytoplasm|nucleolus|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding										ATGCTGGAGAACTGGAAAGTG	0.483000													4	49					0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99931059	99931059	+	Missense_Mutation	SNP	C	C	T	rs139707843	byFrequency	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:99931059C>T	uc004egd.4	-	18	2338	c.1982G>A	c.(1981-1983)cGt>cAt	p.R661H	SYTL4_uc004egc.3_Missense_Mutation_p.R92H|SYTL4_uc010nnb.3_Missense_Mutation_p.R333H|SYTL4_uc010nnc.3_Missense_Mutation_p.R661H|SYTL4_uc004ege.4_Missense_Mutation_p.R661H|SYTL4_uc004egf.4_Missense_Mutation_p.R661H	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	661					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATTGAGGAACGGAGCTGCAG	0.567000													5	14					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:7578403C>T	uc002gim.2	-	4	721	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_uc002gig.1_Missense_Mutation_p.C176Y|TP53_uc002gih.3_Missense_Mutation_p.C176Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C44Y|TP53_uc010cnf.1_Missense_Mutation_p.C44Y|TP53_uc002gii.1_Missense_Mutation_p.C44Y|TP53_uc010cni.1_Missense_Mutation_p.C176Y|TP53_uc010cnh.1_Missense_Mutation_p.C176Y|TP53_uc002gij.2_Missense_Mutation_p.C176Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C83Y|TP53_uc002gio.2_Missense_Mutation_p.C44Y|TP53_uc010vug.2_Missense_Mutation_p.C137Y	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(807)|p.C176F(241)|p.C176Y(122)|p.C176S(27)|p.R175L(19)|p.R175G(15)|p.R175C(15)|p.C176R(12)|p.C176W(11)|p.C83F(9)|p.C44F(9)|p.0?(8)|p.C176*(8)|p.C176fs*71(7)|p.R175P(6)|p.C176_R181delCPHHER(6)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.C176G(4)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.C176fs*5(3)|p.V157_C176del20(2)|p.C176fs*65(2)|p.C176_P177delCP(2)|p.C176fs*68(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R175fs*5(2)|p.R174_C176delRRC(2)|p.V173fs*59(2)|p.C176del(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.R81fs*24(1)|p.C176fs*6(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGTGGGGGCAGCGCCTCAC	0.652000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	16					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs137860963	by1000genomes	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr20:29614328G>A	uc010ztk.1	+	1	67	c.-6_splice	c.e1+1		FRG1B_uc002wvm.1_Splice_Site|FRG1B_uc010ztj.1_Splice_Site|FRG1B_uc010gdr.1_Splice_Site					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289000													3	21					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119144692	119144692	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr9:119144692T>A	uc004bjn.3	+	20	5077	c.4696T>A	c.(4696-4698)Tat>Aat	p.Y1566N	PAPPA_uc011lxq.2_Missense_Mutation_p.Y941N	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1566					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGGAGACAATTATTGTGATGC	0.527000													9	88					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291734	141291734	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:141291734T>C	uc022cfj.1	-	0	40	c.40A>G	c.(40-42)Aac>Gac	p.N14D	MAGEC2_uc004fbu.2_Missense_Mutation_p.N14D	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	14						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGTCGTTGTCAACGTTG	0.522000										HNSCC(46;0.14)			17	100					0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21936937	21936937	+	RNA	SNP	G	G	A			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr15:21936937G>A	uc010tzj.1	-	0		c.3803C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		ACGGTACTGCGTTTGCTCTGC	0.498000													9	66					0	0	1	0	0
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	RNA	SNP	G	G	T			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr15:45848224G>T	uc001zvn.1	+	3		c.978G>T			HMGN2P46_uc010beg.1_Non-coding_Transcript|HMGN2P46_uc010beh.1_Non-coding_Transcript|HMGN2P46_uc010bei.1_Non-coding_Transcript|HMGN2P46_uc010bej.1_Non-coding_Transcript|HMGN2P46_uc001zvm.1_Non-coding_Transcript					Homo sapiens high mobility group nucleosomal binding domain 2 pseudogene 46 (HMGN2P46), non-coding RNA.																		TGCAGATTTTGTTTAGCTTTT	0.318000													5	4					0.014758	0.014758	1	1	0
TMEM104	54868	broad.mit.edu	37	17	72791232	72791232	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:72791232C>G	uc002jls.4	+	6	671	c.509C>G	c.(508-510)tCc>tGc	p.S170C	TMEM104_uc010wrf.1_Missense_Mutation_p.S170C|TMEM104_uc010wrg.1_Missense_Mutation_p.S183C|TMEM104_uc010dfx.3_Missense_Mutation_p.S170C	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	170						integral to membrane		p.S170S(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GTGCCCTTCTCCCTCATGCAG	0.567000													8	23					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974277	16974277	+	RNA	SNP	A	A	C	rs151151026	by1000genomes	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr1:16974277A>C	uc009vow.2	+	4		c.1087A>C			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Splice_Site|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Splice_Site|MST1P2_uc009vox.3_Splice_Site|MST1P2_uc001azm.4_Splice_Site					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGTCCATCTAAGGGTCCGAGG	0.657000													5	56					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70341257	70341257	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:70341257G>T	uc004dyy.3	+	5	1015	c.816G>T	c.(814-816)ttG>ttT	p.L272F	MED12_uc011mpq.1_Missense_Mutation_p.L272F|MED12_uc004dyz.3_Missense_Mutation_p.L272F|MED12_uc004dza.3_Missense_Mutation_p.L119F	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	272					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGGATGAATTGCTTAAACTGC	0.498000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	68					0.00307968	0.00314127	1	1	0
ANKRD50	57182	broad.mit.edu	37	4	125590681	125590681	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr4:125590681T>C	uc010inw.3	-	3	4789	c.3751A>G	c.(3751-3753)Agt>Ggt	p.S1251G	ANKRD50_uc011cgo.2_Missense_Mutation_p.S1072G	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	1251	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TCAAATTCACTACTTGGTGAA	0.433000													22	66					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48152190	48152190	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr11:48152190A>G	uc001ngp.4	+	7	1892	c.1537A>G	c.(1537-1539)Acc>Gcc	p.T513A	PTPRJ_uc001ngo.4_Missense_Mutation_p.T513A	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	513	Fibronectin type-III 5.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTTCCCTGGAACCAAGTATTG	0.428000													10	11					0	0	1	0	0
AK309255	0	broad.mit.edu	37	15	28878843	28878843	+	RNA	SNP	G	G	A	rs150129920	by1000genomes	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr15:28878843G>A	uc010aza.1	+	1		c.281G>A			AK309255_uc010azb.1_Non-coding_Transcript					Homo sapiens cDNA, FLJ97818.																		CTTCCTATTTGGCAATGAGCA	0.438000													4	47					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								8	23					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr20:29625941A>T	uc010ztl.1	+	1	127	c.95A>T	c.(94-96)gAt>gTt	p.D32V	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.D62V(2)|p.A32T(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													4	37					0	0	1	0	0
RWDD2A	112611	broad.mit.edu	37	6	83904244	83904244	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:83904244A>G	uc003pjx.4	+	1	345	c.74A>G	c.(73-75)aAc>aGc	p.N25S	PGM3_uc003pju.2_5'Flank|PGM3_uc003pjw.3_5'Flank|PGM3_uc011dyz.2_5'Flank|PGM3_uc021zcd.1_5'Flank|RWDD2A_uc011dza.2_Intron	NM_033411	NP_219479	Q9UIY3	RWD2A_HUMAN	Homo sapiens RWD domain containing 2A (RWDD2A), mRNA.	25	RWD.									cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		ATGTTTCCTAACCAAGGAGAA	0.443000													8	17					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144856852	144856852	+	Silent	SNP	C	C	T	rs150847495	byFrequency	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr1:144856852C>T	uc021ouh.1	-	39	6935	c.6633G>A	c.(6631-6633)gcG>gcA	p.A2211A	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.A2211A|PDE4DIP_uc001elx.4_Silent_p.A2105A|PDE4DIP_uc001elv.4_Silent_p.A1218A	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2211					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.A2211A(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAAGCTGCACGCTGATCTCA	0.502000			T	PDGFRB	MPD								3	8					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9232315	9232315	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr12:9232315A>C	uc001qvk.1	-	23	3064	c.2951T>G	c.(2950-2952)aTc>aGc	p.I984S	A2M_uc009zgk.1_Missense_Mutation_p.I834S	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	984					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CAGTACATAGATGTTAGGAGC	0.433000													7	12					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151055100	151055100	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:151055100T>C	uc011eem.1	+	1	548	c.460T>C	c.(460-462)Tca>Cca	p.S154P	PLEKHG1_uc011eel.1_Missense_Mutation_p.S135P|PLEKHG1_uc003qny.1_Missense_Mutation_p.S95P|PLEKHG1_uc003qnz.2_Missense_Mutation_p.S95P	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	95	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GAGAGTGGACTCAAACGGGGC	0.587000													12	38					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131466566	131466566	+	Missense_Mutation	SNP	C	C	T	rs144030317		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr12:131466566C>T	uc010tbm.2	+	5	1103	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	GPR133_uc001uit.4_Missense_Mutation_p.R150W	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	150					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R150W(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCTGTATACGCGGGACAATTC	0.587000													14	45					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179592490	179592490	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr2:179592490T>C	uc021vsy.1	-	64	16308	c.16083A>G	c.(16081-16083)atA>atG	p.I5361M	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I2022M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6288	Ig-like 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAACCATTTTATTTTAAATG	0.413000													8	92					0	0	1	0	0
EIF4A1	1973	broad.mit.edu	37	17	7481686	7481686	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:7481686G>A	uc002gho.2	+	21	3666	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	EIF4A1_uc002ghr.1_Silent_p.P347P|EIF4A1_uc021tpc.1_5'Flank|CD68_uc002ghu.3_5'Flank|CD68_uc002ghv.3_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A1 (EIF4A1), transcript variant 1, mRNA.	368	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|RNA cap binding|mRNA binding|protein binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CGGTTTGGCCGTAAAGGTGTG	0.507000													8	81					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901156	51901156	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:51901156C>A	uc002iua.2	+	0	918	c.762C>A	c.(760-762)gaC>gaA	p.D254E	KIF2B_uc010wna.1_Intron	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	254	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.D254Y(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAAAGGTGGACCTCACTCGCT	0.547000													10	31					0.000673444	0.000700932	1	1	0
LETM1	3954	broad.mit.edu	37	4	1836604	1836604	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr4:1836604C>T	uc003gdv.3	-	4	1141	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	LETM1_uc010icc.3_Missense_Mutation_p.A62T|LETM1_uc011bvg.2_Missense_Mutation_p.A282T	NM_012318	NP_036450	O95202	LETM1_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.	282	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCTTTGGTGGCGCTGCCCTTG	0.547000													12	81					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48312200	48312200	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr7:48312200G>C	uc003toq.2	+	16	2961	c.2937G>C	c.(2935-2937)caG>caC	p.Q979H	ABCA13_uc010kyr.2_Missense_Mutation_p.Q482H|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	979					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGAATATTCAGAGTAGAGGCT	0.308000													3	21					0	0	1	0	0
TMEM187	8269	broad.mit.edu	37	X	153247936	153247936	+	Silent	SNP	G	G	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:153247936G>C	uc022cic.1	+	0	423	c.423G>C	c.(421-423)ctG>ctC	p.L141L	TMEM187_uc004fjq.2_Silent_p.L141L|MIR3202-2_uc022cib.1_5'Flank	NM_003492	NP_003483	Q14656	TM187_HUMAN	Homo sapiens transmembrane protein 187 (TMEM187), mRNA.	141						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCCTGGCTGTTCCTCTCTC	0.677000													3	10					0	0	1	0	0
VAV2	7410	broad.mit.edu	37	9	136641200	136641200	+	Silent	SNP	C	C	T	rs150295787		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr9:136641200C>T	uc004ces.3	-	23	2014	c.1968G>A	c.(1966-1968)ccG>ccA	p.P656P	VAV2_uc004cer.3_Silent_p.P646P|VAV2_uc004cet.1_Silent_p.P195P	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	656					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|metal ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGCTGATGGGCGGCTGGTGGC	0.617000													21	56					0	0	1	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000													3	23					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6017340	6017340	+	Missense_Mutation	SNP	T	T	C	rs146118239	by1000genomes	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr7:6017340T>C	uc003spl.3	-	13	2411	c.2324A>G	c.(2323-2325)aAc>aGc	p.N775S	PMS2_uc003spj.3_Missense_Mutation_p.N669S|PMS2_uc003spk.3_Missense_Mutation_p.N640S|PMS2_uc011jwl.2_Missense_Mutation_p.N640S|PMS2_uc010ktg.3_Missense_Mutation_p.N464S|PMS2_uc010kte.3_Missense_Mutation_p.N374S|PMS2_uc010ktf.2_Missense_Mutation_p.T562A	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	775			N -> S (in dbSNP:rs17420802).		mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GAAGGTCCAGTTTTTACTAGT	0.478000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	56					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44269151	44269151	+	Silent	SNP	C	C	G			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:44269151C>G	uc010jza.1	-	19	2652	c.2649G>C	c.(2647-2649)ctG>ctC	p.L883L	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	883					alanyl-tRNA aminoacylation	mitochondrion	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	TGTCCACAATCAGAGGCCCCT	0.602000													11	172					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331300	100331300	+	RNA	SNP	G	G	A			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr15:100331300G>A	uc021sxl.1	-	1		c.1853C>T			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		GCAAGTGGAGGTGTTCATCAG	0.592000													47	51					0	0	1	0	0
SEMA3B	7869	broad.mit.edu	37	3	50313252	50313252	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr3:50313252G>T	uc003cyu.3	+	17	2061	c.1819G>T	c.(1819-1821)Gca>Tca	p.A607S	SEMA3B_uc003cyt.3_Missense_Mutation_p.A606S|SEMA3B_uc003cyv.3_Missense_Mutation_p.A495S|SEMA3B_uc003cyw.3_Missense_Mutation_p.A331S|SEMA3B_uc010hli.3_Missense_Mutation_p.A500S|SEMA3B_uc003cyx.3_Missense_Mutation_p.A494S|SEMA3B_uc003cyy.3_Missense_Mutation_p.A265S|SEMA3B_uc011bdo.2_Missense_Mutation_p.A265S	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B (SEMA3B), transcript variant 1, mRNA.	608	Ig-like C2-type.				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TTTCCAGCGCGCAGGGGTGAC	0.692000													10	26					1.58986e-06	1.68923e-06	1	1	0
EIF4G1	1981	broad.mit.edu	37	3	184042736	184042736	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr3:184042736G>A	uc003fnp.3	+	17	2961	c.2690G>A	c.(2689-2691)gGg>gAg	p.G897E	EIF4G1_uc003fno.2_Missense_Mutation_p.G838E|EIF4G1_uc010hxw.2_Missense_Mutation_p.G733E|EIF4G1_uc010hxx.3_Missense_Mutation_p.G904E|EIF4G1_uc003fnt.3_Missense_Mutation_p.G608E|EIF4G1_uc010hxy.3_Missense_Mutation_p.G904E|EIF4G1_uc003fnq.3_Missense_Mutation_p.G810E|EIF4G1_uc003fnr.3_Missense_Mutation_p.G733E|EIF4G1_uc003fns.3_Missense_Mutation_p.G857E|EIF4G1_uc003fnv.4_Missense_Mutation_p.G898E|EIF4G1_uc003fnw.3_Missense_Mutation_p.G904E|EIF4G1_uc003fnx.3_Missense_Mutation_p.G702E|SNORD66_uc003fnz.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	897	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCTCTTTAGGGAATATCAAG	0.483000													22	52					0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110385328	110385328	+	Silent	SNP	T	T	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:110385328T>C	uc010npv.1	+	1	207	c.180T>C	c.(178-180)aaT>aaC	p.N60N	PAK3_uc010npt.1_Silent_p.N60N|PAK3_uc010npu.1_Silent_p.N60N|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Silent_p.N60N|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Silent_p.N60N|PAK3_uc004epa.2_Silent_p.N60N	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	60					multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CTTTAGCCAATAAGAAGAAGG	0.388000										TSP Lung(19;0.15)			20	64					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr9:20414340G>A	uc003zoe.2	-	4	763	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)|p.S168S(10)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								3	14					0	0	1	0	0
MBNL3	55796	broad.mit.edu	37	X	131520820	131520820	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:131520820A>G	uc004ewv.4	-	4	1494	c.791T>C	c.(790-792)cTg>cCg	p.L264P	AK095439_uc004ewr.1_Intron|MBNL3_uc004eww.3_Missense_Mutation_p.L168P|MBNL3_uc004ewt.3_Missense_Mutation_p.L214P|MBNL3_uc004ewx.2_Missense_Mutation_p.L214P|MBNL3_uc011muz.2_Missense_Mutation_p.L168P|MBNL3_uc004ewu.4_Intron	NM_018388	NP_001164175	Q9NUK0	MBNL3_HUMAN	Homo sapiens muscleblind-like 3 (Drosophila) (MBNL3), transcript variant 1, mRNA.	264					RNA splicing|mRNA processing|multicellular organismal development|regulation of RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					TATCAGTTGCAGTGTACCAGG	0.488000													19	42					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32456488	32456488	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:32456488C>T	uc004dda.1	-	28	4185	c.3941G>A	c.(3940-3942)cGa>cAa	p.R1314Q	DMD_uc004dcz.2_Missense_Mutation_p.R1191Q|DMD_uc004dcy.1_Missense_Mutation_p.R1310Q|DMD_uc004ddb.1_Missense_Mutation_p.R1306Q|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1314					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCTGAATGTCGCATCAAATT	0.363000													6	11					0	0	1	0	0
FAF2	23197	broad.mit.edu	37	5	175913383	175913384	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr5:175913383_175913384insA	uc003mej.4	+	2	213_214	c.160_161insA	c.(160-162)caafs	p.Q54fs		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	Homo sapiens Fas associated factor family member 2 (FAF2), mRNA.	54					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						ATTGAATGAGCAAGAGGGCGTA	0.485													10	53	---	---	---	---					
COL21A1	81578	broad.mit.edu	37	6	55990366	55990366	+	Splice_Site	DEL	T	T	-			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:55990366delT	uc003pcs.3	-	14	1882	c.1650_splice	c.e14+1	p.K550_splice	COL21A1_uc010jzz.3_5'Flank|COL21A1_uc011dxg.2_5'Flank|COL21A1_uc011dxh.2_5'Flank|COL21A1_uc003pct.1_Splice_Site|COL21A1_uc011dxi.1_Splice_Site_p.K550_splice|COL21A1_uc003pcu.1_Splice_Site_p.K547_splice	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	550	Collagen-like 2.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TATACTTCCCTTTTTGCCATA	0.308													2	4	---	---	---	---					
POU3F2	5454	broad.mit.edu	37	6	99282949	99282951	+	In_Frame_Del	DEL	ACG	ACG	-			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:99282949_99282951delACG	uc003ppe.3	+	0	370_372	c.200_202delACG	c.(199-204)cacggc>cgc	p.67_68HG>R		NM_005604	NP_005595	P20265	PO3F2_HUMAN	Homo sapiens POU class 3 homeobox 2 (POU3F2), mRNA.	67					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GCGCTGTCCCAcggcggcggcgg	0.793													2	4	---	---	---	---					
C10orf140	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs138084841	by1000genomes	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr10:21805466_21805467insCCTCCT	uc009xkd.3	-	3	3538_3539	c.1285_1286insAGGAGG	c.(1285-1287)ggg>gAGGAGGgg	p.428_429insEE	AK055656_uc001iqp.1_Non-coding_Transcript|C10orf140_uc021pnx.1_In_Frame_Ins_p.428_429insEE	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	Homo sapiens chromosome 10 open reading frame 140 (C10orf140), mRNA.	347						nucleus	nucleotide binding	p.E428_G429insEE(3)		kidney(1)|large_intestine(8)|lung(9)|ovary(1)|soft_tissue(1)|urinary_tract(1)	21						CCCGCTGCccccctcctcctcc	0.619													3	4	---	---	---	---					
PHLPP1	23239	broad.mit.edu	37	18	60646563	60646565	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr18:60646563_60646565delCAG	uc021ule.1	+	16	5298_5300	c.5053_5055delCAG	c.(5053-5055)cagdel	p.Q1689del		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	1689	Poly-Gln.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						ccaggagcaacagcagcagcagc	0.586													2	4	---	---	---	---					
TAB1	10454	broad.mit.edu	37	22	39772048	39772049	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr22:39772048_39772049insC	uc003axr.3	+	1	1889_1890	c.107_108insC	c.(106-108)gacfs	p.D36fs	TAB1_uc003axo.4_Intron|TAB1_uc003axq.4_Intron|TAB1_uc003axs.4_Intron	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	0					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CGGTCCTGGGACCCCCCAGCCT	0.594													16	126	---	---	---	---					
GAGE2B	645037	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:49208295_49208296insTAT	uc004dnv.4	+	1	140_141	c.24_25insTAT	c.(22-27)insTAT	p.9_10insY	GAGE2B_uc004dnl.4_Intron|GAGE2B_uc022bwc.1_Intron|GAGE2B_uc011mne.2_Intron|GAGE2B_uc004dnn.4_Intron|GAGE2B_uc011mnf.2_Intron|GAGE2B_uc004dnq.4_Intron|GAGE2B_uc004dnr.4_Intron|GAGE2B_uc004dnk.4_Intron|GAGE2B_uc004dno.4_Intron|GAGE2B_uc004dnp.4_Intron|GAGE2B_uc010njc.3_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnt.4_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnu.4_In_Frame_Ins_p.9_10insY	NM_001127212	NP_001091881			Homo sapiens G antigen 2A (GAGE2A), mRNA.																		GAAGATCGACCTATCGGCCTAG	0.465													3	5	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76874425	76874425	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:76874425delT	uc004ecp.4	-	20	5529	c.5297delA	c.(5296-5298)aagfs	p.K1766fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K1728fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K1551fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1766	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TAAATTTTCCTTGATAAAATT	0.313			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						6	11	---	---	---	---					
